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Washington University Experience | MISCELLANEOUS | Wolfram Syndrome | 3A0 Case 3 History
Case 3 History ---- The decedent was a 25-year-old female twin with Wolfram syndrome (allele 1: c.1230-1233delCTCT; Allele 2: c.1620G>A or p.W540X) and associated type I diabetes mellitus, diabetes insipidus, and central vision loss with blindness, She had moderate central and obstructive sleep apnea with BiPAP dependence, generalized anxiety, autonomic dysfunction including dysautonomia, neurogenic bladder, and orthostatic hypotension. She also had extrinsic asthma, and many GI issues including dysphagia, eosinophilic esophagitis, gastroparesis, constipation, and G-tube dependence. She was diagnosed with antibody negative diabetes mellitus in 2001 at 3 years of age, and shortly after with optic atrophy which led to clinical suspicion of Wolfram syndrome which was confirmed later. She had motor delay at 2 years old, and received a brain MRI and EEG in 2000, both of which were unremarkable. She was also diagnosed with mild cerebral palsy of the ataxic type and had motor delay as a toddler which improved with physical therapy.
